Autosomal Recessive Hypophosphatemic Rickets Type 2; a Novel Mutation in the Enpp1 Gene
| dc.authorscopusid | 57190392202 | |
| dc.authorscopusid | 57200792974 | |
| dc.authorwosid | Celebi Bitkin, Eda/Gwm-8813-2022 | |
| dc.contributor.author | Bitkin, Eda Celebi | |
| dc.contributor.author | Aymelek, Huri Sema | |
| dc.date.accessioned | 2025-05-10T17:36:26Z | |
| dc.date.available | 2025-05-10T17:36:26Z | |
| dc.date.issued | 2022 | |
| dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| dc.department-temp | [Bitkin, Eda Celebi] Van Yuzuncu Yil Univ, Div Pediat Endocrinol, Dept Pediat, Van, Turkey; [Aymelek, Huri Sema] Van Yuzuncu Yil Univ, Dept Med Genet, Fac Med, Van, Turkey | en_US |
| dc.description.abstract | Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters. ENPP1 (ectonucleotide pyrophosphatase / phosphodiesterase 1) mutations cause autosomal recessive inheritance hypophosphatemic rickets type 2. Case. In our study, we present a novel mutation in the ENPP1 gene detected in 4 siblings in a single family. Conclusion. Our findings can be applied to further understand molecular pathogenesis and to establish a correlation between genotype and phenotype for HR. | en_US |
| dc.description.woscitationindex | Science Citation Index Expanded | |
| dc.identifier.doi | 10.24953/turkjped.2021.829 | |
| dc.identifier.endpage | 591 | en_US |
| dc.identifier.issn | 0041-4301 | |
| dc.identifier.issue | 3 | en_US |
| dc.identifier.pmid | 35899574 | |
| dc.identifier.scopus | 2-s2.0-85134760824 | |
| dc.identifier.scopusquality | Q3 | |
| dc.identifier.startpage | 585 | en_US |
| dc.identifier.trdizinid | 1139035 | |
| dc.identifier.uri | https://doi.org/10.24953/turkjped.2021.829 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/14088 | |
| dc.identifier.volume | 64 | en_US |
| dc.identifier.wos | WOS:000830892400020 | |
| dc.identifier.wosquality | Q4 | |
| dc.language.iso | en | en_US |
| dc.publisher | Turkish J Pediatrics | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Nbsp | en_US |
| dc.subject | Hypophosphatemic Rickets | en_US |
| dc.subject | Enpp1 Gene | en_US |
| dc.subject | Novel Mutation | en_US |
| dc.title | Autosomal Recessive Hypophosphatemic Rickets Type 2; a Novel Mutation in the Enpp1 Gene | en_US |
| dc.type | Article | en_US |